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DOI: 10.1038/ng.501
¤ OpenAccess: Bronze
This work has “Bronze” OA status. This means it is free to read on the publisher landing page, but without any identifiable license.
Genome-wide association study identifies five loci associated with lung function
Emmanouela Repapi,Ian Sayers,Louise V. Wain,Paul R. Burton,Toby Johnson,Ma’en Obeidat,Jing Hua Zhao,Adaikalavan Ramasamy,Guangju Zhai,Véronique Vitart,Jennifer E. Huffman,Wilmar Igl,Eva Albrecht,Panos Deloukas,John Henderson,Raquel Granell,Wendy L. McArdle,Alicja R. Rudnicka,Inês Barroso,Ruth J.F. Loos,Nicholas J. Wareham,Linda Mustelin,Taina Rantanen,Ida Surakka,Medea Imboden,H‐Erich Wichmann,Ivica Grković,Stipan Janković,Lina Zgaga,Hartikainen Al,Leena Peltonen,Ulf Gyllensten,Åsa Johansson,Ghazal Zaboli,Harry Campbell,Sarah H. Wild,James F. Wilson,Sven Gläser,Georg Homuth,Henry Völzke,Massimo Mangino,Nicole Soranzo,Tim D. Spector,Ozren Polašek,Igor Rudan,Alan F. Wright,Markku Heliövaara,Samuli Ripatti,Anneli Pouta,Åsa Torinsson Naluai,Olin Ac,Kjell Torén,Matthew N. Cooper,Alan James,Lyle J. Palmer,Aroon D. Hingorani,S. Goya Wannamethee,Peter H. Whincup,George Davey Smith,Shah Ebrahim,Tricia M. McKeever,Ian D. Pavord,Andy MacLeod,Andrew D. Morris,David J. Porteous,Christopher S. Cooper,Elaine Dennison,Seif O. Shaheen,Stefan Karrasch,Eva Schnabel,Holger Schulz,Harald Grallert,Nabila Bouatia-Naji,Jérôme Delplanque,Philippe Froguel,John Blakey,Britton,Richard Morris,John W. Holloway,Debbie A. Lawlor,Jennie Hui,Fredrik Nyberg,Marjo‐Riitta Järvelin,Catherine Jackson,Mika Kähönen,Jaakko Kaprio,Nicole Probst‐Hensch,Beate Koch,Caroline Hayward,David M. Evans,Paul Elliott,David P. Strachan,Ian P. Hall,Martin D. Tobin
Genome-wide association study
Vital capacity
Biology
2009
Pulmonary function measures are heritable traits that predict morbidity and mortality and define chronic obstructive pulmonary disease (COPD). We tested genome-wide association with forced expiratory volume in 1 s (FEV(1)) and the ratio of FEV(1) to forced vital capacity (FVC) in the SpiroMeta consortium (n = 20,288 individuals of European ancestry). We conducted a meta-analysis of top signals with data from direct genotyping (n < or = 32,184 additional individuals) and in silico summary association data from the CHARGE Consortium (n = 21,209) and the Health 2000 survey (n < or = 883). We confirmed the reported locus at 4q31 and identified associations with FEV(1) or FEV(1)/FVC and common variants at five additional loci: 2q35 in TNS1 (P = 1.11 x 10(-12)), 4q24 in GSTCD (2.18 x 10(-23)), 5q33 in HTR4 (P = 4.29 x 10(-9)), 6p21 in AGER (P = 3.07 x 10(-15)) and 15q23 in THSD4 (P = 7.24 x 10(-15)). mRNA analyses showed expression of TNS1, GSTCD, AGER, HTR4 and THSD4 in human lung tissue. These associations offer mechanistic insight into pulmonary function regulation and indicate potential targets for interventions to alleviate respiratory disease.
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“Genome-wide association study identifies five loci associated with lung function” is a paper by Emmanouela Repapi Ian Sayers Louise V. Wain Paul R. Burton Toby Johnson Ma’en Obeidat Jing Hua Zhao Adaikalavan Ramasamy Guangju Zhai Véronique Vitart Jennifer E. Huffman Wilmar Igl Eva Albrecht Panos Deloukas John Henderson Raquel Granell Wendy L. McArdle Alicja R. Rudnicka Inês Barroso Ruth J.F. Loos Nicholas J. Wareham Linda Mustelin Taina Rantanen Ida Surakka Medea Imboden H‐Erich Wichmann Ivica Grković Stipan Janković Lina Zgaga Hartikainen Al Leena Peltonen Ulf Gyllensten Åsa Johansson Ghazal Zaboli Harry Campbell Sarah H. Wild James F. Wilson Sven Gläser Georg Homuth Henry Völzke Massimo Mangino Nicole Soranzo Tim D. Spector Ozren Polašek Igor Rudan Alan F. Wright Markku Heliövaara Samuli Ripatti Anneli Pouta Åsa Torinsson Naluai Olin Ac Kjell Torén Matthew N. Cooper Alan James Lyle J. Palmer Aroon D. Hingorani S. Goya Wannamethee Peter H. Whincup George Davey Smith Shah Ebrahim Tricia M. McKeever Ian D. Pavord Andy MacLeod Andrew D. Morris David J. Porteous Christopher S. Cooper Elaine Dennison Seif O. Shaheen Stefan Karrasch Eva Schnabel Holger Schulz Harald Grallert Nabila Bouatia-Naji Jérôme Delplanque Philippe Froguel John Blakey Britton Richard Morris John W. Holloway Debbie A. Lawlor Jennie Hui Fredrik Nyberg Marjo‐Riitta Järvelin Catherine Jackson Mika Kähönen Jaakko Kaprio Nicole Probst‐Hensch Beate Koch Caroline Hayward David M. Evans Paul Elliott David P. Strachan Ian P. Hall Martin D. Tobin published in 2009. It has an Open Access status of “bronze”. You can read and download a PDF Full Text of this paper here.